Tourette Syndrome— Much More Than Tics Moving Beyond Misconceptions to a Diagnosis
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Cover article LOWELL HANDLER First of two parts Tourette syndrome— much more than tics Moving beyond misconceptions to a diagnosis By Samuel H. Zinner, MD Far more people have heard of Tourette syndrome than know what it actually looks and sounds like—or how it feels to the person who has it. That’s a major reason the diagnosis of this condition—the most severe tic disorder—is often missed. A change of perception begins with understanding the breadth and variability of symptoms and being aware of comorbidity. ore than a century has passed since the ical figures (including the Roman Emperor Claudius, French neurologist Georges Gilles de la Wolfgang Amadeus Mozart, and 18th century English Tourette first described the condition literary scholar Samuel Johnson) testify to the wide- that bears his name, a name familiar to spread awareness of TS across cultures and time, de- the lay public and health professionals spite (or perhaps because of) its perceived rarity. So it alike. Once considered so rare that neurologists might seems that the medical community trailed the un- Mexpect to witness the disorder perhaps once in their trained community by centuries in recognizing the professional lifetime, Tourette syndrome (TS) is, in syndrome. fact, common enough that virtually all pediatricians From the time of its initial medical description in will have several patients with this condition in their 1885 until the 1960s, medical experts viewed TS as a practice. Yet, despite its name recognition and the psychological disorder, and treatment was customarily number of people it affects, TS often goes undiag- directed toward psychotherapy. In the 1960s, the ob- nosed or misdiagnosed. Misconceptions about this tic served benefit of psychotropic medications in alleviat- disorder are customary, with the syndrome often per- ing tics reformed this perception, proving a clear neu- ceived as characterized by bizarre, fitful behaviors or rologic basis to the phenomenon. That discovery has comical outbursts of uncontrollable profanity. prompted a wide range of research-based interest in Colorful descriptions of motor and phonic tics in lit- understanding and classifying this varied disorder. erary characters (such as “Mr. Pancks” in Charles The tics of TS range widely in their severity, form, Dickens’s Little Dorrit and “Captain Hardcastle” in frequency, and intensity. Moreover, although tics are Roald Dahl’s autobiographical works1) and in histor- the hallmark of diagnosis, TS is associated with a range of comorbid conditions. When present, these conditions are usually more serious or disabling than DR. ZINNER is assistant professor of pediatrics and a developmental- the tics themselves. behavioral pediatrician at the University of Washington, Center on Human Development and Disability, Seattle. He is a member of the medical advisory The pediatrician can be most helpful to a child with board of the Tourette Syndrome Association, Inc. TS by recognizing signs and symptoms early in onset. 22 CONTEMPORARY PEDIATRICS Vol. 21, No. 8 KEY POINTS Dispelling misconceptions about Tourette syndrome and its diagnosis ▼Fallacy: Tourette syndrome (TS) is rare. ▼Fact: TS is estimated to occur in at least 1% of children. Based on this estimate and on the 2000 US population census, there are approximately 750,000 children with TS in the United States. ▼Fallacy: Shouting of obscenities is a defining characteristic of TS. ▼Fact: Relatively few patients with TS yell out obscenities. ▼Fallacy: Patients with TS are easily recognized by their tics. ▼Fact: Because tics can be suppressed, it is likely that you will observe few or no tics in patients with TS in the clinical setting. This does not exclude the diagnosis of TS. Moreover, most patients are affected only mildly and usually escape notice. ▼Fallacy: The presenting complaint in patients with TS is The diagnosis of TS (the focus of Part 1 of this two-part always tics. article) and its management (the focus of Part 2, which ▼Fact: Often, the presenting complaint will not be tics but begins on page 38) depend on recognizing the unique rather complications of a comorbid condition (e.g., attention clinical presentation of each child and directing an deficit hyperactivity disorder, obsessive-compulsive disorder) ongoing comprehensive and supportive care plan. ▼Fallacy: A diagnosis of TS syndrome is, for most people, catastrophic. The tics of Tourette: There is ▼Fact: Many people are relieved by the diagnosis and the no textbook presentation understanding that it brings, especially if the diagnosis has been Recent studies suggest that tics—mostly transient, missed for some time. Also, tics may be mild or present minimal interference. lasting less than one year—occur in 20% or more of schoolchildren.2 Tourette syndrome, in which the tics are chronic, may occur in 1% or more of mainstream cession, each bout lasting seconds or more. What are children, with a higher prevalence still among children known as complex tics involve more muscle groups, with special education needs.3,4 often have a more sustained duration or orchestrated The clinical manifestations of TS are extremely di- pattern, and may appear purposeful. Complex phonic verse, and no two patients present identically. Most tics more clearly involve linguistically meaningful have mild tics; the minority is severely affected. Tics are repetitive, sudden, involuntary or semivoluntary TABLE 1 productions. They are customarily classified as “simple” or “complex” and as “motor” (movement) or Diagnostic criteria “phonic” (sound-producing). Tics may appear to be for Tourette syndrome exaggerated fragments of ordinary motor or phonic 5 behaviors that occur out of context. ❑ Both multiple motor and one or more vocal tics have been TS is the most severe tic disorder, marked by both present at some time during the illness, although not necessarily motor and phonic tics; Table 1 lists the diagnostic cri- concurrently. teria. Chronic tic disorders other than TS are charac- ❑ The tics occur many times a day (usually in bouts) nearly every terized by motor tics only or, less commonly, by phonic day or intermittently throughout a period of more than one year, tics only. Chronic motor tic disorders occur more and during this period there was never a tic-free period of more commonly than do TS, but follow a course similar to than three consecutive months. that of TS in terms of tic progression and comorbid ❑ The onset is before 18 years. affliction. The following discussion refers specifically ❑ The disturbance is not due to the direct physiological effects to TS. of a substance (e.g., stimulants) or a general medical condition So-called simple tics involve a single muscle or func- (e.g., Huntington’s disease or postviral encephalitis). tionally related group of muscles, and are generally Reprinted with permission from the Diagnostic and Statistical Manual of Mental brief, lasting less than a half second each. However, Disorders, Text Revision, Copyright 2000, American Psychiatric Association. simple tics may occur in repeated bouts of rapid suc- August 2004 CONTEMPORARY PEDIATRICS 23 TOURETTE SYNDROME—TOWARD DIAGNOSIS TABLE 2 Some simple and some complex tics Simple Complex or middle adolescence. At onset, Motor tics Eye blinking Hand gestures motor tics usually are simple in Nose wrinkling Jumping nature, with fast, darting, and Jaw thrusting Touching purposeless eye blinking or neck Facial grimacing Pressing movements being the more com- mon ones. Over months or years, Shoulder shrugging Stomping motor tics may become increasingly Wrist snapping Facial contortions complex, involving more areas of Neck jerking Repeatedly smelling an object the body, generally progressing Limb jerking Squatting over time in a top-to-bottom and Abdominal tensing Deep knee bends central-to-peripheral direction. In Retracing steps addition, the movements may be- Twirling when walking come more elaborate or sustained Unusual posturing (e.g., a “frozen” position, and include combinations of such as holding the neck in a particular tensed movements, such as touching or position for one or more seconds) tapping, hopping, or holding un- Copropraxia (a sudden, tic-like vulgar, sexual, or usual postures, such as an out- obscene gesture) stretched neck, eyes deviated to Echopraxia (imitation of someone else’s movements) one side, or other dystonic postur- Phonic tics Sniffing Single words or phrases ing. Motor tics may also be self-in- Grunting Speech blocking (e.g., stuttering or other jurious to the skin (scratching Barking interruption to speech fluency) oneself, frequently licking the lips Throat clearing Meaningless changes in pitch, emphasis, or volume resulting in severe chapping, or of speech Blowing pulling out one’s hair), mucous Palilalia (repeating one’s own sounds or words) Coughing membranes (biting the inside of Echolalia (repeating the last-heard sound, word, the cheeks), spinal, muscular, or Snorting or phrase) orthopedic structures (violent Chirping Coprolalia (inappropriate expression of a socially head-jerking, bending, or muscle Clicking unacceptable word or phrase, such as an obscenity straining), or vision (poking at the or specific ethnic, racial, or religious slur) Sucking sounds eyeballs). Screaming Similarly, phonic tics usually are simple at onset, and are gener- ally meaningless noises, such as speech and language than do are not vocal tics. Though some- coughing, grunting, or barking. simple phonic tics. Table 2 lists what controversial, it is within ac- Over time, more complex